Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_002947 2,307,322 G→A 9.7% L117L (CTC→CTT)  PP_2029 ← von Willebrand factor type A domain‑containing protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_0029472,307,3220GA 9.7% 131.9 / 5.5 52L117L (CTC→CTT) PP_2029von Willebrand factor type A domain‑containing protein
Reads supporting (aligned to +/- strand):  ref base G (23/23);  new base A (2/3);  total (25/27)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.58e-01

GCGCCTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAGCGGCGGCGCACAGCAGCAA  >  NC_002947/2307177‑2307471
                                                                                                                                                  |                                                                                                                                                     
gcgcCTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAggc                                                                                                                                                   >  1:469242/1‑150 (MQ=255)
 cgcCTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAggcg                                                                                                                                                  >  1:1113924/1‑150 (MQ=255)
  gcCTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAggcgg                                                                                                                                                 <  2:578340/150‑1 (MQ=255)
    cTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCt                                                                                                                                               <  1:1139057/150‑1 (MQ=255)
    cTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCAATCAG‑CGCCTTGACCAGGTCGAggcgtct                                                                                                                                               >  1:220062/1‑147 (MQ=255)
      cAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTgc                                                                                                                                             <  2:977867/150‑2 (MQ=255)
      cAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTCGACCTGGTCAAGGC‑GCTGAt                                                                                                                                            <  2:1403694/150‑1 (MQ=255)
       aaTGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAGCCGCCTCGACCTGGTCAAGGC‑GCTGAt                                                                                                                                            >  1:47874/1‑150 (MQ=255)
        aTGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATg                                                                                                                                           >  1:1128804/1‑150 (MQ=255)
          gAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAGCCGCCTCGACCTGGTCAAGGC‑GCTGATggg                                                                                                                                         <  2:47874/150‑3 (MQ=38)
             gAAGGTGCACACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTc                                                                                                                                      >  1:647553/1‑150 (MQ=255)
                          gTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGc                                                                                                                         <  2:1095781/150‑1 (MQ=255)
                               ccGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTc                                                                                                                    >  2:854608/1‑150 (MQ=255)
                                cGGTCAAAAGTCATCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCg                                                                                                                   <  1:1286883/150‑1 (MQ=255)
                                  gTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGCACAGGATCAGGCCCACGCGGTCGCATCGCCGGTCTTGCAGGAAGTCGACCCTCAG‑CGCCTTGAACATGTCGAGGCGGCTGGTGTCTTCGGTCTGCCACTGCATGTCggg                                                                                                                 <  2:162678/150‑1 (MQ=255)
                                  gTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCggg                                                                                                                 <  1:733469/150‑1 (MQ=255)
                                    cAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTCGACCTGGTCAAggc                                                                                                                                                   >  2:253413/1‑114 (MQ=255)
                                    cAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTCGACCTGGTCAAggc                                                                                                                                                   <  1:253413/114‑1 (MQ=255)
                                          tGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCATATCTAGGCGGCTTGTGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCa                                                                                                         <  1:27612/150‑1 (MQ=255)
                                            aGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATc                                                                                                       <  1:691260/150‑1 (MQ=255)
                                            aGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATc                                                                                                       <  2:469242/150‑1 (MQ=255)
                                                gcgcCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGGCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGAcc                                                                                                   >  2:1010939/1‑150 (MQ=255)
                                                 cgcCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGAccc                                                                                                  <  2:876093/150‑1 (MQ=255)
                                                        aGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACg                                                                                           <  2:498240/150‑1 (MQ=255)
                                                            aGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCa                                                                                       >  1:919212/1‑150 (MQ=255)
                                                              gCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCAcc                                                                                     <  1:795948/150‑1 (MQ=255)
                                                                         gAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGTTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGaa                                                                                                              >  1:811199/1‑114 (MQ=255)
                                                                         gAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGaa                                                                                                              <  2:811199/114‑1 (MQ=255)
                                                                           aCAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGt                                                                        >  1:908647/1‑150 (MQ=255)
                                                                           aCAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGt                                                                        >  1:908507/1‑150 (MQ=255)
                                                                                 tCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGc                                                                  >  2:785369/1‑150 (MQ=255)
                                                                                       ccACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTgg                                                            <  2:647553/150‑1 (MQ=255)
                                                                                          cgcgGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTggcgg                                                         <  2:1128804/150‑1 (MQ=255)
                                                                                               tCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACcagca                                                                           >  2:359326/1‑127 (MQ=255)
                                                                                               tCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACcagca                                                                           <  1:359326/127‑1 (MQ=255)
                                                                                                     tCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCAcc                                              >  1:4053/1‑150 (MQ=255)
                                                                                                             ttGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGCTTGCGGCCGCTGGCGGCGATCGGCACCGGTTCGcc                                      >  2:337516/1‑150 (MQ=255)
                                                                                                                cAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCCCCCCCAGCAGATCGCGGCCGCTGGCGGCCATCGGCACCGGTTCGCCCAg                                   >  2:431960/1‑150 (MQ=255)
                                                                                                                   gAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGac                                                                                              <  2:967212/88‑1 (MQ=255)
                                                                                                                   gAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGac                                                                                              >  1:967212/1‑88 (MQ=255)
                                                                                                                   gAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGcccgcaat                                >  2:97051/1‑145 (MQ=255)
                                                                                                                     aGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCAtt                              >  2:1358408/1‑150 (MQ=255)
                                                                                                                         gCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCgg                          <  2:919212/150‑1 (MQ=255)
                                                                                                                          cccATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCggg                         >  1:1229923/1‑150 (MQ=255)
                                                                                                                                 g‑cgcCTTGACCAGGTCGAGGCGTCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgcgg                  <  2:220062/150‑1 (MQ=255)
                                                                                                                                      cTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgcggcggc              <  1:785369/150‑1 (MQ=255)
                                                                                                                                      cTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgcggcggc              <  1:431960/150‑1 (MQ=255)
                                                                                                                                       ttGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgcggcggcg             >  1:699100/1‑150 (MQ=255)
                                                                                                                                          aCCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAGCGGCGGCGcac          <  2:1113924/150‑1 (MQ=255)
                                                                                                                                           ccAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgc                    <  1:119847/139‑1 (MQ=255)
                                                                                                                                           ccAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAgc                    >  2:119847/1‑139 (MQ=255)
                                                                                                                                            cAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGCTCGGCCGCGGGTCGCCCAGCCGTTGCGGGCGAGCGGCGGCGCAcag        >  1:672267/1‑150 (MQ=255)
                                                                                                                                                  gAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAGCGGCGGCGCACAGCAGCaa  >  2:1325312/1‑150 (MQ=255)
                                                                                                                                                  |                                                                                                                                                     
GCGCCTCAATGAGGAAGGTGCGCACGGTGCGCCGGTCAAAGGTGAGCGGCGCCTGCAGGTAGGCCTGGCTGCCGAACAGGATCAGGCCCACGCGGTCGCCTTCACGGTCTTGCAGGAAGTCGCCCATCAG‑CGCCTTGACCAGGTCGAGGCGGCTGATGTCCTCGTTCTGCCACTGCATGTCGGGGAAGTCCATCGACCCGGACACGTCCACCGCCACCAGCAGGTCGCGGCCGCTGGCGGCGATCGGCACCGGTTCGCCCAGCCATTGCGGGCGAGCGGCGGCGCACAGCAGCAA  >  NC_002947/2307177‑2307471

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑